About Us

An individual with Lynch syndrome has one copy of a defective gene and one normal gene. Individuals with CMMRD have 2 copies of defective genes (one from each parent). The lifetime risk for someone with Lynch syndrome is higher than the normal population. This means that the possibility of having cancer increases as a person gets older. 

Most individuals will be affected by cancer before they reach adulthood. Most children diagnosed with CMMRD usually present with advanced/metastatic cancers. Our children have homozygous EPCAM and from what we have been told our son is the only living entity known with this condition. 

You have a 25% chance of having a child with CMMRD, 50% chance of having a child with Lynch syndrome, and a 25% chance of having a child with neither. While this may seem like an anomaly our family had two children both with CMMRD. 

We have been at this for the last five years. For the first two years we did not know Yash had CMMRD. It was very difficult to find a team that was willing to explore why our then six-year-old had bleeding in stools and was having significant cramping. It was not until one GI doctor understood our dilemma and scoped him that we realized he had eight-hemorrhagic polyps that were blocking most of his colon. He had whole exome sequencing that did not show any alarming GI conditions. At eight when he had his colectomy we were told he had a condition called FAP. It was after his colectomy that the surgeon and GI doctor felt the need to further test him for Lynch syndrome. The first year other than a brain MRI a lot of time was not spent on CMMRD (because it wasn’t considered emergent). We had spent time helping him recover from his colectomy and pouch reversal. It was not until his motility disorder caused significant difficulty with quality of life did we choose to reach out to other experts. 

It was very difficult even then to get connected to a pediatric genetic oncologist. For the second year of this diagnosis we spent most of our time with a GI specialist who discovered additional polyps in the small intestine. It was at that time we decided to move care to a center that has both experience with genetic cancer and has seen one other child with the same. 

Genetic testing is what saved our son. Because of testing our family now has four previvors, one adult cancer survivor, and our son who continues to be a trailblazer. While there may be comfort in the unknown as a parent/caregiver to two children with rare and ultra rare diseases knowing is the first step in a long bumpy road. While there is a lot of ethical dilemma around testing, living with a known diagnosis will help you live a longer and healthier life than the unknown.

If you can please donate blood, tissue samples, personal time to supporting research initiatives. Even though we know there may not be a cure in our lifetime for CMMRD both our children (and us) will be enrolled in every possible study possible. We hope to leave a legacy for the future generation through not only awareness and advocacy but by donating to research. 

We lost our four-year-old daughter to multiple rare diseases. Knowing our son has CMMRD has helped his medical team stay ahead of his cancer and nip it in the bud. 

Unlike adult cancer childhood cancers only receive 4% of total funds raised. Our children do not have drugs or trials that are specific to them. If you have a chance as an adult with CRC please enroll in research – you may help save the life of another adult or a child.